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DMD c.1109A>G ;(p.N370S)
Variant ID: X-32663121-T-C
NM_004006.2(
DMD
):c.1109A>G;(p.N370S)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Mitochondrial Function and Parkinson's Disease: From the Perspective of the Electron Transport Chain.
Frontiers In Molecular Neuroscience
Li, Jeng-Lin JL; Lin, Tai-Yi TY; Chen, Po-Lin PL; Guo, Ting-Ni TN; Huang, Shu-Yi SY; Chen, Chun-Hong CH; Lin, Chin-Hsien CH; Chan, Chih-Chiang CC
Publication Date: 2021
Variant appearance in text: DMD: N370S
PubMed Link:
34955747
Variant Present in the following documents:
fnmol-14-797833.pdf
View BVdb publication page
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Bmc Medical Genetics
Singh, Kanika K; Bijarnia-Mahay, Sunita S; Ramprasad, V L VL; Puri, Ratna Dua RD; Nair, Sandhya S; Sharda, Sheetal S; Saxena, Renu R; Kohli, Sudha S; Kulshreshtha, Samarth S; Ganguli, Indrani I; Gujral, Kanwal K; Verma, Ishwar C IC
Publication Date: 2020-11-02
Variant appearance in text: DMD: Asn370Ser
PubMed Link:
33138774
Variant Present in the following documents:
Main text
12881_2020_Article_1153.pdf
View BVdb publication page
A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.
Molecular Genetics & Genomic Medicine
Malekkou, Anna A; Sevastou, Ioanna I; Mavrikiou, Gavriella G; Georgiou, Theodoros T; Vilageliu, Lluisa L; Moraitou, Marina M; Michelakakis, Helen H; Prokopiou, Chrystalla C; Drousiotou, Anthi A
Publication Date: 2020-03
Variant appearance in text: DMD: N370S
PubMed Link:
31943857
Variant Present in the following documents:
MGG3-8-e1090.pdf
View BVdb publication page
Disease variants in genomes of 44 centenarians.
Molecular Genetics & Genomic Medicine
Freudenberg-Hua, Yun Y; Freudenberg, Jan J; Vacic, Vladimir V; Abhyankar, Avinash A; Emde, Anne-Katrin AK; Ben-Avraham, Danny D; Barzilai, Nir N; Oschwald, Dayna D; Christen, Erika E; Koppel, Jeremy J; Greenwald, Blaine B; Darnell, Robert B RB; Germer, Soren S; Atzmon, Gil G; Davies, Peter P
Publication Date: 2014-09
Variant appearance in text: DMD: N370S
PubMed Link:
25333069
Variant Present in the following documents:
Main text
mgg30002-0438.pdf
View BVdb publication page